A12S (p.Ala12Ser) variant of KCNQ3 (O43525)
A12S (p.Ala12Ser) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- rs1352880493
- ClinGen CA372293028
- ClinVar RCV002570109
- gnomAD rs1352880493
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available